Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03068:Gm4952'

409784

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4952

Ensembl Gene

ENSMUSG00000071633

Gene Name

predicted gene 4952

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL03068

Quality Score

Status

Chromosome

Chromosomal Location

12577348-12604980 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12601068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 96 (N96S)

Ref Sequence

ENSEMBL: ENSMUSP00000090607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092931] [ENSMUST00000181868]

AlphaFold

Q5FW57

Predicted Effect

probably damaging
Transcript: ENSMUST00000092931
AA Change: N96S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: N96S

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	2.6e-90	PFAM
Pfam:Gly_acyl_tr_C	207	295	2.7e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181868
AA Change: N96S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
AA Change: N96S

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	3.7e-112	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,311,171 (GRCm39)	L14P	probably damaging	Het
Ak2	G	T	4: 128,901,819 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,246 (GRCm39)	Y311C	probably damaging	Het
Arl9	C	A	5: 77,155,225 (GRCm39)	L119I	possibly damaging	Het
Atp1a1	T	C	3: 101,491,175 (GRCm39)	H620R	probably benign	Het
Cfap52	T	C	11: 67,826,682 (GRCm39)	D381G	probably benign	Het
Cngb3	T	C	4: 19,375,246 (GRCm39)	F292S	possibly damaging	Het
Comtd1	G	A	14: 21,897,711 (GRCm39)	R203C	probably damaging	Het
Crmp1	G	T	5: 37,422,633 (GRCm39)	A147S	possibly damaging	Het
Csmd3	T	A	15: 47,710,517 (GRCm39)	H1586L	possibly damaging	Het
Ctnna1	G	A	18: 35,382,785 (GRCm39)	E644K	possibly damaging	Het
Dock3	T	C	9: 106,841,958 (GRCm39)	D957G	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Eefsec	G	T	6: 88,235,209 (GRCm39)	Q576K	probably benign	Het
Efcab5	T	A	11: 76,994,927 (GRCm39)	I1215L	probably benign	Het
Etfa	A	T	9: 55,394,766 (GRCm39)	D160E	probably benign	Het
Exoc7	G	A	11: 116,191,960 (GRCm39)	R197C	possibly damaging	Het
G6pc1	A	G	11: 101,261,576 (GRCm39)	D92G	probably benign	Het
Gm3182	T	A	14: 4,483,921 (GRCm38)		probably null	Het
Gpr156	G	A	16: 37,812,491 (GRCm39)	V276M	probably damaging	Het
Irs2	A	G	8: 11,054,974 (GRCm39)	S1153P	probably damaging	Het
Kif21b	T	C	1: 136,086,093 (GRCm39)		probably benign	Het
Lmo7	A	T	14: 102,112,928 (GRCm39)		probably benign	Het
Mapk4	G	T	18: 74,103,415 (GRCm39)	N31K	probably damaging	Het
Mccc2	T	C	13: 100,100,319 (GRCm39)	T357A	probably damaging	Het
Mpeg1	A	G	19: 12,439,570 (GRCm39)	T343A	probably benign	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Pald1	T	C	10: 61,156,963 (GRCm39)	E829G	possibly damaging	Het
Pde11a	A	G	2: 75,848,208 (GRCm39)	I873T	probably damaging	Het
Samd9l	T	A	6: 3,375,348 (GRCm39)	K638*	probably null	Het
Sema4d	A	G	13: 51,862,922 (GRCm39)	S479P	probably damaging	Het
Slc12a2	T	C	18: 58,037,407 (GRCm39)		probably benign	Het
Slc47a2	T	C	11: 61,194,769 (GRCm39)	N470S	probably damaging	Het
Spag17	C	T	3: 99,987,521 (GRCm39)	P1604S	probably benign	Het
Taf8	C	A	17: 47,812,290 (GRCm39)	V39L	probably damaging	Het
Tlr11	A	G	14: 50,598,941 (GRCm39)	E309G	probably benign	Het
Tmem260	A	G	14: 48,724,371 (GRCm39)		probably benign	Het
Tsc1	A	T	2: 28,571,270 (GRCm39)	K816M	probably damaging	Het
Ttc29	A	G	8: 79,052,180 (GRCm39)	I354V	probably benign	Het
Ttll3	A	T	6: 113,386,158 (GRCm39)	N665Y	probably damaging	Het
Ubr4	A	G	4: 139,137,041 (GRCm39)	T971A	probably benign	Het
Vmn2r96	T	A	17: 18,803,137 (GRCm39)	I349N	probably benign	Het
Vwa5a	A	G	9: 38,646,143 (GRCm39)	T504A	probably benign	Het
Ythdf3	T	A	3: 16,258,882 (GRCm39)	V354E	possibly damaging	Het
Zan	C	A	5: 137,474,677 (GRCm39)	G13V	probably damaging	Het

Other mutations in Gm4952

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Gm4952	APN	19	12,595,772 (GRCm39)	missense	probably damaging	1.00
IGL00990:Gm4952	APN	19	12,600,987 (GRCm39)	missense	probably damaging	1.00
IGL01542:Gm4952	APN	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
IGL01714:Gm4952	APN	19	12,602,075 (GRCm39)	missense	probably benign	0.16
IGL02339:Gm4952	APN	19	12,604,275 (GRCm39)	missense	probably damaging	0.98
IGL03100:Gm4952	APN	19	12,602,083 (GRCm39)	critical splice donor site	probably null
IGL03274:Gm4952	APN	19	12,600,960 (GRCm39)	splice site	probably benign
IGL03295:Gm4952	APN	19	12,595,691 (GRCm39)	missense	probably benign	0.39
PIT4520001:Gm4952	UTSW	19	12,602,048 (GRCm39)	missense	probably benign	0.12
R0604:Gm4952	UTSW	19	12,602,036 (GRCm39)	missense	probably benign	0.07
R1221:Gm4952	UTSW	19	12,601,059 (GRCm39)	missense	possibly damaging	0.51
R1513:Gm4952	UTSW	19	12,602,039 (GRCm39)	missense	probably damaging	0.99
R1514:Gm4952	UTSW	19	12,604,278 (GRCm39)	missense	probably damaging	1.00
R1804:Gm4952	UTSW	19	12,595,784 (GRCm39)	missense	probably damaging	0.98
R1928:Gm4952	UTSW	19	12,600,973 (GRCm39)	missense	probably damaging	0.99
R2447:Gm4952	UTSW	19	12,595,770 (GRCm39)	missense	possibly damaging	0.70
R4930:Gm4952	UTSW	19	12,604,376 (GRCm39)	missense	probably benign	0.00
R5360:Gm4952	UTSW	19	12,600,993 (GRCm39)	missense	probably benign	0.08
R5704:Gm4952	UTSW	19	12,604,275 (GRCm39)	missense	probably damaging	1.00
R7143:Gm4952	UTSW	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
R7332:Gm4952	UTSW	19	12,604,373 (GRCm39)	missense	probably damaging	1.00
R7420:Gm4952	UTSW	19	12,604,265 (GRCm39)	missense	probably damaging	1.00
R7702:Gm4952	UTSW	19	12,604,428 (GRCm39)	missense	probably benign	0.00
R9573:Gm4952	UTSW	19	12,604,090 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02